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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Rothmund-Thomson syndrome type 2 | |
| Synonyms |
Poikiloderma of Rothmund-Thomson type 2 RTS2 |
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| Definitions |
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_221016 |
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| alternative_term |
Poikiloderma of Rothmund-Thomson type 2 RTS2
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|
| definition |
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221016 |
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| has_age_of_onset |
Infancy Neonatal
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
ICD-10:Q82.8 UMLS:C5203410 ICD-11:LD2B OMIM:268400
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| label |
Rothmund-Thomson syndrome type 2
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|
| notation |
ORPHA:221016 Clinical subtype
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_221016
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| prefLabel |
Rothmund-Thomson syndrome type 2
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 200.0 (Case)
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| treeView | ||
| subClassOf |
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